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dbVar

Database of genomic structural variation

nsv3214877

Organism: Homo sapiens

Study:nstd152 (Chaisson et al. 2019)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:2,523

Publication(s):Chaisson et al. 2019

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 90 SVs from 24 studies. See in: genome view

Submitted genomic47,788,794-47,796,356

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3214877	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	47,791,314 (-2520, +2520)	47,793,836 (-2520, +2520)
nsv3214877	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	48,185,097 (-2520, +2520)	48,187,619 (-2520, +2520)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv14364685	duplication	HG00512	Sequencing	Sequence alignment	2	13,827
nssv14364686	duplication	SAMN00006466	Sequencing	Sequence alignment	2	14,137
nssv14364687	duplication	HG00514	Sequencing	Sequence alignment	2	39,861
nssv14364688	duplication	SAMN00006579	Sequencing	Sequence alignment	2	13,953
nssv14364689	duplication	SAMN00006580	Sequencing	Sequence alignment	2	14,212
nssv14364690	duplication	SAMN00006581	Sequencing	Sequence alignment	3	41,185
nssv14364691	duplication	SAMN00001694	Sequencing	Sequence alignment	2	16,419
nssv14364692	duplication	SAMN00001695	Sequencing	Sequence alignment	2	15,732
nssv14364693	duplication	SAMN00001696	Sequencing	Sequence alignment	2	45,591

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14364685	Submitted genomic		NC_000012.12:g.(47 788794_47793834)_( 47791316_47796356) dup	GRCh38 (hg38)		NC_000012.12	Chr12	47,791,314 (-2520, +2520)	47,793,836 (-2520, +2520)
nssv14364686	Submitted genomic		NC_000012.12:g.(47 788794_47793834)_( 47791316_47796356) dup	GRCh38 (hg38)		NC_000012.12	Chr12	47,791,314 (-2520, +2520)	47,793,836 (-2520, +2520)
nssv14364687	Submitted genomic		NC_000012.12:g.(47 788794_47793834)_( 47791316_47796356) dup	GRCh38 (hg38)		NC_000012.12	Chr12	47,791,314 (-2520, +2520)	47,793,836 (-2520, +2520)
nssv14364688	Submitted genomic		NC_000012.12:g.(47 788794_47793834)_( 47791316_47796356) dup	GRCh38 (hg38)		NC_000012.12	Chr12	47,791,314 (-2520, +2520)	47,793,836 (-2520, +2520)
nssv14364689	Submitted genomic		NC_000012.12:g.(47 788794_47793834)_( 47791316_47796356) dup	GRCh38 (hg38)		NC_000012.12	Chr12	47,791,314 (-2520, +2520)	47,793,836 (-2520, +2520)
nssv14364690	Submitted genomic		NC_000012.12:g.(47 788794_47793834)_( 47791316_47796356) dup	GRCh38 (hg38)		NC_000012.12	Chr12	47,791,314 (-2520, +2520)	47,793,836 (-2520, +2520)
nssv14364691	Submitted genomic		NC_000012.12:g.(47 788794_47793834)_( 47791316_47796356) dup	GRCh38 (hg38)		NC_000012.12	Chr12	47,791,314 (-2520, +2520)	47,793,836 (-2520, +2520)
nssv14364692	Submitted genomic		NC_000012.12:g.(47 788794_47793834)_( 47791316_47796356) dup	GRCh38 (hg38)		NC_000012.12	Chr12	47,791,314 (-2520, +2520)	47,793,836 (-2520, +2520)
nssv14364693	Submitted genomic		NC_000012.12:g.(47 788794_47793834)_( 47791316_47796356) dup	GRCh38 (hg38)		NC_000012.12	Chr12	47,791,314 (-2520, +2520)	47,793,836 (-2520, +2520)
nssv14364685	Remapped	Perfect	NC_000012.11:g.(48 182577_48187617)_( 48185099_48190139) dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	48,185,097 (-2520, +2520)	48,187,619 (-2520, +2520)
nssv14364686	Remapped	Perfect	NC_000012.11:g.(48 182577_48187617)_( 48185099_48190139) dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	48,185,097 (-2520, +2520)	48,187,619 (-2520, +2520)
nssv14364687	Remapped	Perfect	NC_000012.11:g.(48 182577_48187617)_( 48185099_48190139) dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	48,185,097 (-2520, +2520)	48,187,619 (-2520, +2520)
nssv14364688	Remapped	Perfect	NC_000012.11:g.(48 182577_48187617)_( 48185099_48190139) dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	48,185,097 (-2520, +2520)	48,187,619 (-2520, +2520)
nssv14364689	Remapped	Perfect	NC_000012.11:g.(48 182577_48187617)_( 48185099_48190139) dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	48,185,097 (-2520, +2520)	48,187,619 (-2520, +2520)
nssv14364690	Remapped	Perfect	NC_000012.11:g.(48 182577_48187617)_( 48185099_48190139) dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	48,185,097 (-2520, +2520)	48,187,619 (-2520, +2520)
nssv14364691	Remapped	Perfect	NC_000012.11:g.(48 182577_48187617)_( 48185099_48190139) dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	48,185,097 (-2520, +2520)	48,187,619 (-2520, +2520)
nssv14364692	Remapped	Perfect	NC_000012.11:g.(48 182577_48187617)_( 48185099_48190139) dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	48,185,097 (-2520, +2520)	48,187,619 (-2520, +2520)
nssv14364693	Remapped	Perfect	NC_000012.11:g.(48 182577_48187617)_( 48185099_48190139) dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	48,185,097 (-2520, +2520)	48,187,619 (-2520, +2520)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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